Almanac of Clinical MedicineAlmanac of Clinical MedicineАльманах клинической медицины2072-05052587-9294Moscow Regional Research and Clinical Institute (MONIKI)1650310.18786/2072-0505-2023-51-049REVIEW ARTICLEОБЗОРReview ArticlePrimary immunodeficiency disorders imitating inflammatory bowel diseases: clinical aspects and problems of the differential diagnosisПервичные иммунодефицитные состояния, имитирующие воспалительные заболевания кишечника: клинические аспекты и проблемы дифференциальной диагностикиhttps://orcid.org/0000-0002-8514-3080571970378043478-8606ShcherbakovaOlga V.ЩербаковаОльга Вячеславовна
Russian Federation

MD, PhD, Head of Department of Surgery

д-р мед. наук, заведующая хирургическим отделением

olga-03@yandex.ruBranch of The Russian National Research Medical University named after N.I. Pirogov – Russian Children's Clinical HospitalРоссийская детская клиническая больница – филиал ФГАОУ ВО «Российский национальный исследовательский медицинский университет имени Н.И. Пирогова» Минздрава России111220235184564680310202331012024Copyright ©; 2023, Shcherbakova O.V.Copyright ©; 2023, Щербакова О.В.2023Shcherbakova O.V.Щербакова О.В.https://creativecommons.org/licenses/by-nc/4.0https://almclinmed.ru/jour/article/view/16503

From the beginning of 2000s, there has been a significant increase in the incidence of inflammatory bowel diseases (IBD) and primary immunodeficiency disorders (PIDs) in adults and children in many countries around the world. The aim of the review is to summarize the state-of-the-art on diverse clinical types of PIDs with gastrointestinal manifestations and their differential diagnostic algorithms.

Atypical PIDs with “blunted” clinical manifestations are challenging for the timely diagnosis. Some types of PIDs with gastrointestinal involvement are also difficult to differentiate with classical IBDs. Molecular genetic studies have allowed for selection of a specific group of monogenic IBD-like diseases, represented mainly by PIDs. The authors discuss current classification of PIDs and their main clinical types imitating IBD, with important clinical and laboratory aspects. High level of information and awareness of practicing specialists working with IBD patients would be helpful in the selection of a patient cohort with possible PIDs and in the performance of extended laboratory assessment or referring for genetic tests. Timely diagnosis of PIDs would ensure quick administration of target therapy or hematopoietic stem cell transplantation, which in most cases would allow for the achievement of the disease remission, improvement of quality and duration of life.

С начала 2000-х гг. отмечен значительный рост заболеваемости воспалительными заболеваниями кишечника (ВЗК) и первичными иммунодефицитными состояниями (ПИДС) у взрослых и детей во многих странах мира. Цель обзора – обобщить современные представления о многообразии клинических вариантов ПИДС с гастроинтестинальными проявлениями и об этапах дифференциальной диагностики.

Атипичные варианты ПИДС со стертой клинической картиной довольно сложны для своевременной диагностики. Некоторые формы ПИДС с поражением кишечного тракта также бывает непросто дифференцировать с классическими ВЗК. Проведение молекулярно-генетических исследований позволяет выделить особую группу моногенных ВЗК-подобных заболеваний, представленную ПИДС. В статье приведена современная классификация ПИДС и основные клинические варианты, имитирующие ВЗК, с важными клинико-лабораторными аспектами. Информированность и настороженность практикующих специалистов, наблюдающих пациентов с ВЗК, помогут определить когорту больных с вероятным ПИДС и провести расширенную лабораторную диагностику или направить на генетическое тестирование. Своевременная диагностика ПИДС обеспечивает быстрое назначение таргетной терапии или проведение трансплантации гемопоэтических стволовых клеток, что в большинстве наблюдений позволяет достичь ремиссии заболевания, улучшить качество и продолжительность жизни пациентов.

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